The BARD1 Cys557Ser variant and risk of familial breast cancer in a South-American population

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dc.catalogadorjlo
dc.contributor.authorGonzalez-Hormazabal, Patricio
dc.contributor.authorReyes, José M.
dc.contributor.authorBlanco, Rafael
dc.contributor.authorBravo, Teresa
dc.contributor.authorCarrera, Ignacio
dc.contributor.authorPeralta, Octavio
dc.contributor.authorGómez, Fernando
dc.contributor.authorWaugh, Enrique
dc.contributor.authorMargarit, Sonia
dc.contributor.authorIbañez, Gladys
dc.contributor.authorSantos Martín, José Luis
dc.contributor.authorJara, Lilian
dc.date.accessioned2024-01-22T14:41:53Z
dc.date.available2024-01-22T14:41:53Z
dc.date.issued2012
dc.description.abstractSince the discovery of the BRCA1 and BRCA2 genes, much work has been carried out to identify further breast cancer (BC) susceptibility genes. BARD1 (BRCA1-associated ring domain) was originally identified as a BRCA1-interacting protein but has also been described in tumor-suppressive functions independent of BRCA1. Some association studies have suggested that the BARD1 Cys557Ser variant might be associated with increased risk of BC, but others have failed to confirm this finding. To date, this variant has not been analyzed in Spanish or South-American populations. In this study, using a case-control design, we analyzed the C-terminal Cys557Ser change in 322 Chilean BC cases with no mutations in BRCA1 or BRCA2 and in 570 controls in order to evaluate its possible association with BC susceptibility. BARD1 Cys557Ser was associated with an increased BC risk (P = 0.04, OR = 3.4 [95 % CI 1.2-10.2]) among cases belonging to families with a strong family history of BC. No difference between single cases affected with age < 50 years at diagnosis (n = 117) and controls was observed for carriers of Cys/Ser genotype. It is likely that this variant is not involved in BC risk in this group of women. We also analyzed a possible interaction between BARD1 557Ser/XRCC3 241Met variants considering the role of both genes in the maintenance of genome integrity. The combined genotype Cys/Ser-carrier with the XRCC3 241Met allele was associated with an increased BC risk (P = 0.02, OR = 5.01 [95 % CI 1.36-18.5]) among women belonging to families with at least three BC and/or ovarian cancer cases. Our results suggest that BARD1 557Ser and XRCC3 241Met may play roles in BC risk in women with a strong family history of BC. Nevertheless there is no evidence of an interaction between the two SNPs. These findings should be confirmed by other studies and in other populations.
dc.fuente.origenSIPA
dc.identifier.doi10.1007/s11033-012-1656-2
dc.identifier.issn1573-4978
dc.identifier.urihttps://repositorio.uc.cl/handle/11534/80869
dc.identifier.wosidWOS:000305749200029
dc.information.autorucEscuela de Medicina; Santos Martín, José Luis; 0000-0003-2895-0369; 1005923
dc.issue.numero8
dc.language.isoen
dc.nota.accesoContenido parcial
dc.pagina.final8098
dc.pagina.inicio8091
dc.revistaMolecular Biology Reports
dc.rightsacceso restringido
dc.subjectBARD1-Cys557Ser
dc.subjectFamilial breast cancer
dc.subjectPolymorphism
dc.subjectXRCC3-Thr241Met
dc.subject.ddc610
dc.subject.deweyMedicina y saludes_ES
dc.subject.ods03 Good Health and Well-being
dc.subject.odspa03 Salud y bienestar
dc.titleThe BARD1 Cys557Ser variant and risk of familial breast cancer in a South-American population
dc.typeartículo
dc.volumen39
sipa.codpersvinculados1005923
sipa.trazabilidadConveris;20-07-2021
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